Kenjiro Kosaki

Websitehttps://k-ris.keio.ac.jp/html/100007220_en.html

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337 Article
41 Letter
15 Review article
10 Comment/debate
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- 1 Chapter

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing
Yamada, M., Okuno, H., Okamoto, N., Suzuki, H., Miya, F., Takenouchi, T. & Kosaki, K., 2023 Feb, In: European Journal of Medical Genetics. 66, 2, 104690.
Research output: Contribution to journal › Article › peer-review
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses
Yoshihama, K., Mutai, H., Sekimizu, M., Ito, F., Saito, S., Nakamura, S., Mikoshiba, T., Nagai, R., Takebayashi, A., Miya, F., Kosaki, K., Ozawa, H. & Matsunaga, T., 2023, (Accepted/In press) In: Clinical Genetics.
Research output: Contribution to journal › Article › peer-review

Open Access
A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R
Nakajima, K., Suzuki, H., Yamamoto, M., Yamamoto, T., Kawai, T., Nakabayashi, K., Hata, K., Kosaki, K., Nakajima, H., Sano, S. & Kubo, A., 2022 Jul, In: Journal of Dermatology. 49, 7, p. 714-718 5 p.
Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus)
A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis
Awazu, M., Yamada, M., Asada, N., Hashiguchi, A., Kosaki, K. & Matsumura, K., 2022 Feb 1, In: CEN case reports. 11, 1, p. 116-119 4 p.
Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus)
An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions
Hayakawa, M., Matsubara, T., Mochizuki, Y., Takeuchi, C., Minamitani, M., Imai, M., Kosaki, K., Arai, T. & Murayama, S., 2022 Dec, In: BMC Neurology. 22, 1, 2.
Research output: Contribution to journal › Article › peer-review

Open Access
2 Citations (Scopus)

Kenjiro Kosaki

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Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing

Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses

A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R

A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis

An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions

Kenjiro Kosaki

Fingerprint

Network

Research output

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing

Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses

A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R

A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis

An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions